Condition: CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder)


rs104894075 in GDAP1 gene and CHARCOT-MARIE-TOOTH DISEASE, TYPE 4A (disorder) PMID 11743579 2002 Ganglioside-induced differentiation-associated protein-1 is mutant in Charcot-Marie-Tooth disease type 4A/8q21.

PMID 21840889 2011 Genetic spectrum of hereditary neuropathies with onset in the first year of life.

PMID 12601710 2003 CMT4A: identification of a Hispanic GDAP1 founder mutation.

PMID 16172208 2005 Ganglioside-induced differentiation associated protein 1 is a regulator of the mitochondrial network: new implications for Charcot-Marie-Tooth disease.

PMID 15772096 2005 GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.

PMID 11743580 2002 The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.

PMID 20849849 2011 Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.

PMID 14561495 2003 Identification of novel GDAP1 mutations causing autosomal recessive Charcot-Marie-Tooth disease.

PMID 18021315 2008 Cell expression of GDAP1 in the nervous system and pathogenesis of Charcot-Marie-Tooth type 4A disease.

PMID 22971097 2012 A novel autosomal dominant GDAP1 mutation in an Italian CMT2 family.

PMID 21890626 2011 Charcot-Marie-Tooth-related gene GDAP1 complements cell cycle delay at G2/M phase in Saccharomyces cerevisiae fis1 gene-defective cells.

PMID 21753178 2011 Dominant GDAP1 mutations cause predominantly mild CMT phenotypes.

PMID 15805163 2005 Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect.

PMID 21199105 2010 Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.

PMID 19782751 2009 GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance.

PMID 28220846 2017 CMT-linked loss-of-function mutations in GDAP1 impair store-operated Ca2+ entry-stimulated respiration.

PMID 23628762 2013 Charcot-Marie-Tooth disease-associated mutants of GDAP1 dissociate its roles in peroxisomal and mitochondrial fission.

PMID 18504680 2008 Two novel mutations in the GDAP1 and PRX genes in early onset Charcot-Marie-Tooth syndrome.

PMID 19500985 2009 Novel mutations in the GDAP1 gene in patients affected with early-onset axonal Charcot-Marie-Tooth type 4A.

PMID 20685671 2010 The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.

PMID 26392352 2015 Application of targeted multi-gene panel testing for the diagnosis of inherited peripheral neuropathy provides a high diagnostic yield with unexpected phenotype-genotype variability.

PMID 22206013 2011 The mutational spectrum in a cohort of Charcot-Marie-Tooth disease type 2 among the Han Chinese in Taiwan.

PMID 28495047 2017 Similar clinical, pathological, and genetic features in Chinese patients with autosomal recessive and dominant Charcot-Marie-Tooth disease type 2K.

PMID 21692914 2011 Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations.

PMID 15192818 2004 [Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease].

PMID 29372391 2018 Genotype-phenotype correlation and frequency of distribution in a cohort of Chinese Charcot-Marie-Tooth patients associated with GDAP1 mutations.

PMID 23466821 2013 Molecular analysis of the genes causing recessive demyelinating Charcot-Marie-Tooth disease in Japan.

PMID 17433678 2007 GDAP1 mutations in Czech families with early-onset CMT.

PMID 15377708 2004 A novel mutation of GDAP1 associated with Charcot-Marie-Tooth disease in three Italian families: evidence for a founder effect.

PMID 21965300 2012 Charcot-Marie-Tooth disease CMT4A: GDAP1 increases cellular glutathione and the mitochondrial membrane potential.

PMID 25429913 2014 Charcot-Marie-Tooth disease: frequency of genetic subtypes in a Southern Italy population.

PMID 23456260 2013 Dominant GDAP1 founder mutation is a common cause of axonal Charcot-Marie-Tooth disease in Finland.

PMID 26525999 2016 GDAP1 mutations in Italian axonal Charcot-Marie-Tooth patients: Phenotypic features and clinical course.

PMID 23963299 2014 Targeted next-generation sequencing reveals further genetic heterogeneity in axonal Charcot-Marie-Tooth neuropathy and a mutation in HSPB1.

PMID 18421898 2007 Charcot-Marie-Tooth disease type 4C4 caused by a novel Pro153Leu substitution in the GDAP1 gene.

PMID 28751717 2017 Distribution and genotype-phenotype correlation of GDAP1 mutations in Spain.

PMID 21212451 2011 The homozygous ganglioside-induced differentiation-associated protein 1 mutation c.373C > T causes a very early-onset neuropathy: case report and literature review.

PMID 12566285 2003 Mutations in the ganglioside-induced differentiation-associated protein-1 (GDAP1) gene in intermediate type autosomal recessive Charcot-Marie-Tooth neuropathy.